Variant report

Variant	rs34406824
Chromosome Location	chr1:220233396-220233397
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs1039206	1.00[CEU][hapmap];1.00[JPT][hapmap]
rs1124763	1.00[JPT][hapmap]
rs17007107	1.00[JPT][hapmap]
rs17007139	0.82[CHD][hapmap];1.00[JPT][hapmap]
rs3820455	0.82[CHD][hapmap];1.00[JPT][hapmap]
rs41274792	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs57463200	0.81[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv427930	chr1:220120379-220333434	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	744 gene(s)	inside rSNPs	diseases
2	nsv832636	chr1:220139697-220294352	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	738 gene(s)	inside rSNPs	diseases
3	esv3388149	chr1:220205606-220233828	Genic enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
4	esv2753619	chr1:220210273-220302117	Weak transcription Active TSS Flanking Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	737 gene(s)	inside rSNPs	diseases
5	nsv549222	chr1:220226732-220246392	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers	Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:220220000-220236000	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr1:220220400-220233800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr1:220220400-220236000	Weak transcription	Aorta	Aorta
4	chr1:220220400-220236000	Weak transcription	HSMMtube	muscle
5	chr1:220220400-220238400	Weak transcription	Brain Cingulate Gyrus	brain
6	chr1:220220400-220240800	Weak transcription	NHDF-Ad	bronchial
7	chr1:220220400-220243600	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr1:220220400-220257600	Weak transcription	Stomach Mucosa	stomach
9	chr1:220220600-220235000	Weak transcription	Fetal Muscle Leg	muscle
10	chr1:220220600-220236000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr1:220220600-220236000	Weak transcription	Cortex derived primary cultured neurospheres	brain
12	chr1:220220600-220236000	Weak transcription	Brain Anterior Caudate	brain
13	chr1:220220600-220237400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
14	chr1:220220600-220237600	Weak transcription	Right Ventricle	heart
15	chr1:220220600-220245800	Weak transcription	HUES6 Cell Line	embryonic stem cell
16	chr1:220220600-220262400	Weak transcription	Pancreas	Pancrea
17	chr1:220220600-220262400	Weak transcription	NHLF	lung
18	chr1:220220800-220235000	Weak transcription	Stomach Smooth Muscle	stomach
19	chr1:220220800-220236000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr1:220220800-220236000	Weak transcription	Brain Inferior Temporal Lobe	brain
21	chr1:220220800-220236000	Weak transcription	Fetal Lung	lung
22	chr1:220220800-220237600	Weak transcription	Brain Hippocampus Middle	brain
23	chr1:220220800-220237600	Weak transcription	Colon Smooth Muscle	Colon
24	chr1:220220800-220238400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr1:220220800-220238600	Weak transcription	Brain Substantia Nigra	brain
26	chr1:220220800-220261600	Weak transcription	Fetal Brain Male	brain
27	chr1:220221000-220234800	Weak transcription	Primary B cells from cord blood	blood
28	chr1:220221000-220235000	Weak transcription	Primary T helper cells PMA-I stimulated	--
29	chr1:220221000-220236200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr1:220221000-220237800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
31	chr1:220224000-220240800	Weak transcription	A549	lung
32	chr1:220225800-220234000	Weak transcription	H1 Cell Line	embryonic stem cell
33	chr1:220225800-220245800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
34	chr1:220226200-220234200	Weak transcription	HUES64 Cell Line	embryonic stem cell
35	chr1:220226800-220234800	Weak transcription	HSMM	muscle
36	chr1:220226800-220240400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
37	chr1:220227000-220234000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
38	chr1:220227400-220236000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
39	chr1:220227400-220245600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
40	chr1:220227600-220240000	Weak transcription	Fetal Kidney	kidney
41	chr1:220227800-220245800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
42	chr1:220228000-220236000	Weak transcription	Brain Angular Gyrus	brain
43	chr1:220228200-220240000	Weak transcription	Psoas Muscle	Psoas
44	chr1:220228400-220238400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
45	chr1:220228800-220234000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
46	chr1:220229000-220235600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
47	chr1:220229400-220233600	Strong transcription	Rectal Mucosa Donor 29	rectum
48	chr1:220229400-220236000	Weak transcription	Skeletal Muscle Male	skeletal muscle
49	chr1:220229600-220233800	Strong transcription	Liver	Liver
50	chr1:220229800-220245000	Weak transcription	Primary T killer memory cells from peripheral blood	blood

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